EPM2A
EPM2A is a gene that encodes laforin, a phosphatase enzyme involved in glycogen metabolism. Laforin plays a crucial role in preventing the accumulation of abnormal glycogen deposits called Lafora bodies, which are toxic to neurons. Mutations in EPM2A cause Lafora disease, a rare and fatal form of progressive myoclonus epilepsy. This underscores the vital role of EPM2A in maintaining neuronal health through metabolic regulation.
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